A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15928663



Internal ID20000603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54072893..54096637hg38UCSC Ensembl
chr8:54985453..55009197hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3823745
hg1923745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164331
Supporting Variants
Samples
Known GenesLYPLA1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15928663
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000094


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